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Article

Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome.

American journal of medical genetics - 4 Dec 1995

Reish O, Berry S A, Hirsch B

Abstract excerpt

We describe 5 patients ranging in age from 3 to 47 years, with karyotypic abnormalities resulting in monosomy for portion of 1p36.3, microcephaly, mental retardation, prominent forehead, deep-set eyes, depressed nasal bridge, flat midface, relative prognathism, and abnormal ears. Four patients have small hands and feet. All exhibited self-abusive behavior. Additional findings in some of the patients include brain...

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Source

Identifiers

PMID: 8585567
DOI: 10.1002/ajmg.1320590413

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome.PMID 8585567Read ↗

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Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.Semantic proximity Read ↗

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.Semantic proximity Read ↗

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Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the SyndromeSemantic proximity Read ↗

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